Skip to main content
DNA Labs India

ITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test

Short Name: ITGA6 Gene EB-PA NGS Test

Also known as: Epidermolysis Bullosa with Pyloric Atresia, EB-PA, ITGA6-related EB-PA

ITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Epidermolysis Bullosa with Pyloric Atresia caused by ITGA6 gene mutations, confirm clinical diagnosis, identify carriers for genetic counseling, and assist in family planning and prenatal decisions.

Test Code
2393
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree chart. A genetic counseling session is recommended to discuss test implications.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture into an EDTA tube or one drop of blood on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient room temperature for analysis. Reports are generated and delivered in 3-4 weeks via online portal, email, or WhatsApp.

Timeline: 3-4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation are recommended. Provide consent and discuss potential outcomes with a healthcare provider.
2
During the Test:The blood sample undergoes DNA extraction and sequencing using NGS technology in a certified laboratory.
3
After the Test:Results are reviewed by a geneticist and compiled into a clinical report. Follow-up counseling may be provided based on findings.

About This Test

Who Should Get This Test

To diagnose Epidermolysis Bullosa with Pyloric Atresia caused by ITGA6 gene mutations, confirm clinical diagnosis, identify carriers for genetic counseling, and assist in family planning and prenatal decisions.

How to Prepare

  • Bring prescription and valid ID
  • Inform about any medications or recent blood transfusions
  • No specific fasting required, but follow general guidelines if advised by physician
  • Ensure sample is properly labeled and handled to avoid contamination

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for EB-PA is crucial for early diagnosis and family planning, especially in families with a history of the condition. It aids in identifying carriers and guiding management decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood in EDTA tube: stable at 2-8°C for up to 72 hours
FTA card: stable at room temperature for extended periods
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or incorrectly labeled samples
  • Clotted blood in EDTA tube
  • Samples not collected in appropriate containers

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ITGA6 gene, which are associated with Epidermolysis Bullosa Junctionalis with Pyloric Atresia. Interpretation should be done in conjunction with clinical findings and family history.
📊

Positive

Pathogenic variant detected in the ITGA6 gene, confirming diagnosis of EB-PA. Genetic counseling recommended for family planning.

📊

Negative

No pathogenic variants found in the ITGA6 gene. Clinical correlation is advised, as other genetic or non-genetic causes may be present.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was detected but its clinical significance is unclear. Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms of EB-PA are present, such as skin blistering or pyloric atresia, or for family planning in families with a history of the condition. Consult a geneticist or dermatologist for proper evaluation.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Requires genetic counseling for accurate interpretation of results
  • ⚠Cost may be a barrier for some patients, though home collection is available
  • ⚠Results may show variants of uncertain significance requiring further testing

Risks & Considerations

  • ●Emotional or psychological impact from test results
  • ●Financial cost of the test
  • ●Potential implications for family members and insurance
  • ●Risk of variants of uncertain significance causing anxiety

Interfering Factors

  • ●Sample contamination
  • ●Degraded or insufficient DNA
  • ●Hemolyzed blood samples
  • ●Previous blood transfusions may affect results

Compare With Similar Tests

TestITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
ComparisonITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test

Frequently Asked Questions

What is ITGA6 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia?
It is a rare genetic disorder caused by mutations in the ITGA6 gene, leading to skin blistering and pyloric atresia, a blockage in the stomach.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the ITGA6 gene from a blood or DNA sample, identifying mutations responsible for EB-PA.
What are the symptoms of EB-PA?
Symptoms include severe skin blistering, difficulty swallowing, stomach obstruction, weight loss, and poor growth, typically appearing in infancy.
Who should get this test?
Individuals with symptoms of EB-PA, those with a family history of the condition, or carriers seeking genetic counseling for family planning.
What is the cost of the test?
The ITGA6 Gene EB-PA NGS Genetic Test costs INR 20,000 at DNA Labs India, with home sample collection available.
How long does it take to get results?
Results are typically available within 3-4 weeks from the date of sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What do the test results mean?
Results can be positive (mutation detected), negative (no mutation), or variant of uncertain significance, requiring genetic counseling for interpretation.
Can this test detect carriers of EB-PA?
Yes, the test can identify individuals who carry mutations in the ITGA6 gene, even if they are not affected, aiding in family planning.
Are there any risks associated with the test?
Risks include emotional distress from results, financial cost, and potential implications for family dynamics, but the test itself is minimally invasive.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting mutations in the ITGA6 gene, but accuracy depends on sample quality and the specific variants analyzed.
What should I do if the test is positive?
If positive, consult a geneticist or healthcare provider for further management, genetic counseling, and family planning options.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.